Canonical Allele Identifier: CA1146254563

Gene: GABRD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2024451C= , CM000663.2:g.2024451C=	GRCh38
NC_000001.10:g.1955890C= , CM000663.1:g.1955890C=	GRCh37
NC_000001.9:g.1945750C=	NCBI36
NG_008168.1:g.10123C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378585.7:c.69-491C= MANE Select	ENSP00000367848.4:n.69-491C=
ENST00000638411.1:c.69-491C=	ENSP00000491632.1:n.69-491C=
ENST00000638604.1:n.133-491C=
ENST00000638771.1:c.69-491C=	ENSP00000492435.1:n.69-491C=
ENST00000639045.1:c.*55-491C=	ENSP00000491997.1:n.*55-491C=
ENST00000639777.1:n.182C=
ENST00000639935.1:n.106-491C=
ENST00000640030.1:c.9-491C=	ENSP00000491411.1:n.9-491C=
ENST00000640067.1:c.69-491C=	ENSP00000491844.1:n.69-491C=
ENST00000640423.1:n.78-491C=
ENST00000640949.1:c.69-491C=	ENSP00000492500.1:n.69-491C=
ENST00000378585.5:c.69-491C=	ENSP00000367848.4:n.69-491C=
NM_000815.4:c.69-491C=	NP_000806.2:n.69-491C=
XM_011541194.1:c.108-491C=	XP_011539496.1:n.108-491C=
XM_011541194.3:c.108-491C=	XP_011539496.1:n.108-491C=
XM_017000936.1:c.283C=	XP_016856425.1:p.Leu95=
NM_000815.5:c.69-491C= MANE Select	NP_000806.2:n.69-491C=